Promoter variant in skeletal muscle uncoupling protein 3 that increases UCP3 expression and fatty acid oxidation, with associations with BMI, insulin resistance, and type 2 diabetes risk

Intronic CYP2C8 variant linked to epoxygenase pathway activity, hypertension susceptibility, COPD risk, and bladder cancer protection

Intronic regulatory variant in ELK3 influencing circulating TSH levels and hypothyroidism susceptibility — the rare A allele increases risk by approximately 28% per copy

Regulatory variant that increases PPARD transcription, enhancing fat oxidation during exercise and endurance capacity; the C allele is associated with elite endurance athlete status

Intronic USF1 variant; the T allele disrupts insulin-responsive USF1 regulation and is associated with familial combined hyperlipidemia susceptibility and elevated triglycerides

Intronic NRF1 variant associated with baseline differences in ventilatory threshold and running economy — the T allele predicts lower aerobic efficiency independent of training, with a stronger signal (p=0.004) than the companion rs6949152 variant (p=0.047)

Pathogenic missense variant in TGFBR2 (Leu308Pro) causing Loeys-Dietz syndrome type 2 — a connective tissue disorder with high risk of early aortic aneurysm and dissection requiring lifelong cardiovascular surveillance

The most common pathogenic PMM2 variant, causing phosphomannomutase 2 deficiency and PMM2-CDG (congenital disorder of glycosylation type Ia) when inherited in compound heterozygous form; homozygous R141H is embryonic lethal

Intronic/3'UTR variant in LHPP, a histidine phosphatase essential for stress resilience in the prefrontal cortex — the T allele is associated with increased risk for major depressive disorder, particularly following chronic stress

Intronic variant in TNFSF4 (OX40 ligand) linked to a promoter haplotype that reduces OX40L expression; homozygous G carriers show approximately 2-fold increased myocardial infarction risk in some populations, with the strongest signal in women